MUCOLIPIDOSIS TYPE-IV - CLINICAL MANIFESTATIONS AND NATURAL-HISTORY
MUCOLIPIDOSIS TYPE-IV - CLINICAL MANIFESTATIONS AND NATURAL-HISTORY
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DOI：
10.1002/ajmg.1320410310
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发表时间：
1991-12-01
期刊：
影响因子：
--
通讯作者：
CARPENTER, S
中科院分区：
文献类型：
--
作者：
CHITAYAT, D;MEUNIER, CM;CARPENTER, S
本文报告了来自三个德系犹太人家庭的五名粘脂沉积症IV（MLIV）患者的临床表现和精神发育。 主要症状为张力减退、发育迟缓、角膜混浊和眼睑肿胀。 其中4名患者患有会聚性斜视，并且没有超过15个月发育年龄的进展。 1名患者在17岁时死于吸入，而年龄最大的患者在20岁时进入青春期，在30岁时出现面部粗糙，现在32岁。 4例患者的组织学研究显示MLIV的特征性储存变化。
The clinical manifestations and psychomotor development of five patients with mucolipidosis IV (MLIV) from three Ashkenazi-Jewish families are reported. The presenting symptoms were hypotonia, developmental delay, corneal clouding, and puffy eyelids. Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLIV.